background: extracardiac malformations can be seen in 20-45% of infants with congenital heart disease (chd). chromosomal abnormalities exist in 5-10% of patients with chd. the aim of this study was to assess the frequency of overt extra cardiac malformations in children with chd. methods: this descriptive epidemiologic study was conducted on 720 patients with chd referred to the pediatric cardi...

holt-oram syndrome (hos) is a developmental disorder inherited in an autosomal-dominant pattern. affected organs are the heart and forelimbs with upper extremity skeletal defects and congenital heart malformation. in this study we present three cases of hos in the same family. in one of these three individuals we detected a transition of c to t (ctg-gtt, v205v) in exon 7 of the tbx5 gene. this ...

The use of sequential segmental analysis for describing congenital heart malformations was the method of assessment used in a prospective necropsy study covering Jutland, a well defined geographical and demographic area of Denmark. The study group was 1,154 children of whom 261 (22.6%) had a congenital heart malformation. The most common malformations were ductus arteriosus and ventricular sept...

A Univentricular Heart (UVH) is a rare congenital heart malformation. Prognosis without surgical intervention is considered to be poor and survival into the adulthood is unusual (1, 2). Its incidence being 1% to 4.3% of all congenital heart defects. Here we reported this rare congenital heart defect; hence it was worth reporting this interesting case.

Published reports and personal experience are reviewed relating to patients under 1 year of age diagnosed with a vein of Galen malformation and congenital heart disease. Including five patients from this institution, a total of 23 patients (12 neonates) with congenital heart disease and a vein of Galen malformation have been reported. Six of these had sinus venosus atrial septal defect and nine...

Holt-Oram syndrome (HOS) is a developmental disorder inherited in an autosomal-dominant pattern. Affected organs are the heart and forelimbs with upper extremity skeletal defects and congenital heart malformation. In this study we present three cases of HOS in the same family. In one of these three individuals we detected a transition of C to T (CTG-GTT, V205V) in exon 7 of the TBX5 gene. This ...

Ebsteins anomaly is a rare complex congenital heart disorder with malformation of the tricuspid valve and right ventricle associated to left shunt. Severity can range from asymptomatic severely debilitated. We have discussed case 12-year-old female patient for cerebral abscess drainage.

Holt Oram Syndrome (HOS) falls in rare prevalence category with probability of 0.7 100,000 live births. It is a autosomal dominant multiple malformation syndrome characterized by abnormalities affecting hands, wrists, arms,congenital heart defects and/or conduction problems. Genetic mutations observed TBX5 gene attributed as the main cause HOS. Our patient his late 40s was diagnosed Syndrome. H...